RGD:38484304 Rat Genome Database

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Variant: RGD:38484304 -  Homo sapiens

RGD ID: 38484304
RS ID: rs2059896686
ClinVar ID: CV941150
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABAT  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 8,858,692
GRCh38 16 8,764,835
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001386614.1:c.294+5G>T
NM_001386612.1:c.405+5G>T
NM_001386603.1:c.540+5G>T
NM_001386606.1:c.540+5G>T
More... 		07/19/2019 intron variant uncertain significance 4 alpha aminobutyrate transaminase deficiency; GABA aminotransaminase deficiency; GABA transaminase deficiency; Gamma aminobutyrate transaminase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ABAT
Accession:NM_001386609
Location:INTRON

Gene Symbol:ABAT
Accession:NM_001386612
Location:INTRON

Gene Symbol:ABAT
Accession:NM_001386607
Location:INTRON

Gene Symbol:ABAT
Accession:NM_001386614
Location:INTRON

Gene Symbol:ABAT
Accession:NM_000663
Location:INTRON

Gene Symbol:ABAT
Accession:XM_047433688
Location:INTRON

Gene Symbol:ABAT
Accession:XM_047433685
Location:INTRON

Gene Symbol:ABAT
Accession:NM_020686
Location:INTRON

Gene Symbol:ABAT
Accession:NM_001386603
Location:INTRON

Gene Symbol:ABAT
Accession:NM_001386600
Location:INTRON

Gene Symbol:ABAT
Accession:NM_001386613
Location:INTRON

Gene Symbol:ABAT
Accession:NM_001386608
Location:INTRON

Gene Symbol:ABAT
Accession:NM_001386604
Location:INTRON

Gene Symbol:ABAT
Accession:NM_001127448
Location:INTRON

Gene Symbol:ABAT
Accession:NM_001386616
Location:INTRON

Gene Symbol:ABAT
Accession:NM_001386602
Location:INTRON

Gene Symbol:ABAT
Accession:NM_001386610
Location:INTRON

Gene Symbol:ABAT
Accession:NM_001386611
Location:INTRON

Gene Symbol:ABAT
Accession:XM_047433686
Location:INTRON

Gene Symbol:ABAT
Accession:XM_047433687
Location:INTRON

Gene Symbol:ABAT
Accession:NM_001386606
Location:INTRON

Gene Symbol:ABAT
Accession:NM_001386605
Location:INTRON

Gene Symbol:ABAT
Accession:NM_001386601
Location:INTRON

Gene Symbol:ABAT
Accession:NM_001386615
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001219348 CLINVAR
dbSNP (RS) rs2059896686 CLINVAR
MedGen C0342708 CLINVAR
NCBI Gene ABAT CLINVAR
OMIM 137150 CLINVAR
  613163 CLINVAR
SNOMED CT 237941007 CLINVAR